61071003: Proline dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Proline dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proline dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Proline dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperprolinemia\Proline dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Hyperprolinemia\Proline dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Proline dehydrogenase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperprolinemia\Proline dehydrogenase deficiency

\Congenital disease\Inborn error of metabolism\Proline dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

101484012 Proline dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

101485013 Hyperprolinemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

101486014 Proline oxidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

498929018 Hyperprolinaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

800093016 Proline dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1216791011 Hyperprolinaemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

1218279011 Hyperprolinemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proline dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Proline dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Proline dehydrogenase deficiency	Is a	Hyperprolinemia	true	Inferred relationship	Existential restriction modifier
Proline dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Proline dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Proline dehydrogenase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

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Characteristic

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This concept is not in any reference sets